Mutagenetix > Incidental Mutation

Incidental Mutation 'R2001:Ago1'

225915

Institutional Source

Beutler Lab

Gene Symbol

Ago1

Ensembl Gene

ENSMUSG00000041530

Gene Name

argonaute RISC catalytic subunit 1

Synonyms

Eif2c1, argonaute 1

MMRRC Submission

040011-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.810) question?

Stock #

R2001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126328805-126362376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126348187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 44 (I44V)

Ref Sequence

ENSEMBL: ENSMUSP00000134871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097888] [ENSMUST00000176315]

AlphaFold

Q8CJG1

Predicted Effect

probably null
Transcript: ENSMUST00000097888
AA Change: I351V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095498
Gene: ENSMUSG00000041530
AA Change: I351V

Domain	Start	End	E-Value	Type
Pfam:ArgoN	26	164	2.3e-26	PFAM
DUF1785	173	225	3.48e-25	SMART
PAZ	233	368	1.41e-5	SMART
Pfam:ArgoL2	373	418	3.6e-18	PFAM
Pfam:ArgoMid	427	509	7.6e-37	PFAM
Piwi	515	816	4.16e-131	SMART
Blast:Piwi	823	849	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000127800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149425

Predicted Effect

probably null
Transcript: ENSMUST00000176315
AA Change: I44V

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134871
Gene: ENSMUSG00000041530
AA Change: I44V

Domain	Start	End	E-Value	Type
Pfam:PAZ	1	62	4.1e-23	PFAM
Piwi	211	512	4.16e-131	SMART
Blast:Piwi	519	545	2e-6	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in keratinocytes exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,571,800 (GRCm39)	S559P	probably benign	Het
A430005L14Rik	T	A	4: 154,044,314 (GRCm39)	C42S	probably damaging	Het
Abca13	A	T	11: 9,223,967 (GRCm39)	T449S	probably benign	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Adamts13	C	T	2: 26,864,002 (GRCm39)	P60L	probably benign	Het
Adamts20	T	C	15: 94,245,599 (GRCm39)	T568A	possibly damaging	Het
Agtpbp1	TGAAGATGCATCTTGAGAAGA	TGAAGA	13: 59,623,617 (GRCm39)		probably null	Het
Ankrd28	A	T	14: 31,467,293 (GRCm39)	V39E	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Astn1	A	G	1: 158,348,091 (GRCm39)	N506D	probably damaging	Het
BC051019	G	A	7: 109,319,758 (GRCm39)	Q102*	probably null	Het
Bpifb5	A	G	2: 154,075,199 (GRCm39)	T376A	possibly damaging	Het
Ccdc121rt1	G	T	1: 181,338,551 (GRCm39)	Q134K	probably benign	Het
Ccl20	ATT	ATTT	1: 83,095,576 (GRCm39)		probably null	Het
Ccl6	G	T	11: 83,480,163 (GRCm39)	P68T	possibly damaging	Het
Cd300ld	A	T	11: 114,878,156 (GRCm39)	F119I	probably benign	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cemip2	A	G	19: 21,779,351 (GRCm39)	D387G	probably benign	Het
Chkb	C	T	15: 89,312,969 (GRCm39)	G36E	probably damaging	Het
Col11a1	A	G	3: 113,958,942 (GRCm39)		probably null	Het
Ctla2b	T	C	13: 61,043,881 (GRCm39)	Y120C	probably damaging	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Cyp2a22	G	A	7: 26,634,197 (GRCm39)	P319L	probably damaging	Het
Dcaf12	A	C	4: 41,302,804 (GRCm39)	V117G	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dgki	T	C	6: 36,842,736 (GRCm39)	D923G	possibly damaging	Het
Dhx37	G	T	5: 125,504,528 (GRCm39)	T345K	probably damaging	Het
Dhx9	A	T	1: 153,331,857 (GRCm39)	Y1370*	probably null	Het
Dnah7b	T	C	1: 46,181,247 (GRCm39)	S1045P	possibly damaging	Het
Dnmbp	G	C	19: 43,838,612 (GRCm39)	T1071S	possibly damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Dst	A	T	1: 34,223,144 (GRCm39)	E1625D	probably damaging	Het
Egflam	T	A	15: 7,272,048 (GRCm39)	H630L	probably benign	Het
Elane	T	C	10: 79,723,593 (GRCm39)	V186A	possibly damaging	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Get3	T	C	8: 85,751,789 (GRCm39)	S36G	probably damaging	Het
Gfra1	A	G	19: 58,288,707 (GRCm39)	L246P	probably damaging	Het
Gria2	T	C	3: 80,618,112 (GRCm39)	T308A	probably benign	Het
Grip2	A	T	6: 91,756,831 (GRCm39)	V540D	probably benign	Het
Hhipl1	A	T	12: 108,288,118 (GRCm39)	I575F	possibly damaging	Het
Hmcn1	T	A	1: 150,614,364 (GRCm39)	E1347D	possibly damaging	Het
Itga2b	C	A	11: 102,358,165 (GRCm39)	A187S	probably benign	Het
Kalrn	C	A	16: 33,848,415 (GRCm39)	R469M	probably damaging	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lck	T	C	4: 129,442,730 (GRCm39)	N475S	probably benign	Het
Leng8	A	G	7: 4,148,073 (GRCm39)	N642S	probably damaging	Het
Lingo4	T	A	3: 94,310,382 (GRCm39)	I440N	probably damaging	Het
Lrrc4	A	G	6: 28,830,904 (GRCm39)	F237S	probably damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Naip2	A	T	13: 100,281,096 (GRCm39)	I1316N	probably damaging	Het
Naip6	C	T	13: 100,437,237 (GRCm39)	G429S	probably benign	Het
Noct	C	T	3: 51,155,465 (GRCm39)	R78C	probably damaging	Het
Npbwr1	A	G	1: 5,987,394 (GRCm39)	V40A	possibly damaging	Het
Nsd2	A	G	5: 34,000,746 (GRCm39)	N88D	probably damaging	Het
Or1e29	T	A	11: 73,667,539 (GRCm39)	I205F	probably benign	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or6c210	T	A	10: 129,496,290 (GRCm39)	I205N	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pard3	C	T	8: 127,791,097 (GRCm39)		probably null	Het
Pde4c	A	G	8: 71,200,007 (GRCm39)		probably null	Het
Pde6h	T	A	6: 136,940,203 (GRCm39)	I63N	probably damaging	Het
Phldb2	T	C	16: 45,594,558 (GRCm39)	K916E	possibly damaging	Het
Ppig	T	C	2: 69,571,988 (GRCm39)	S236P	unknown	Het
Ptprd	T	C	4: 75,872,359 (GRCm39)	Y1370C	probably damaging	Het
Pzp	T	C	6: 128,493,083 (GRCm39)	T352A	probably benign	Het
Rab3gap1	A	G	1: 127,831,456 (GRCm39)	Y177C	possibly damaging	Het
Rasgef1a	G	A	6: 118,066,157 (GRCm39)	V457M	probably benign	Het
Scel	A	T	14: 103,848,226 (GRCm39)	T616S	possibly damaging	Het
Sel1l	A	T	12: 91,793,324 (GRCm39)	Y228*	probably null	Het
Sgms1	A	G	19: 32,137,083 (GRCm39)	V161A	possibly damaging	Het
Slfnl1	T	C	4: 120,390,424 (GRCm39)	L25P	probably benign	Het
Smad5	A	G	13: 56,885,187 (GRCm39)	T432A	probably damaging	Het
Sohlh2	T	C	3: 55,099,762 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,383 (GRCm39)	M835K	probably damaging	Het
Sqor	A	C	2: 122,640,018 (GRCm39)	T174P	probably damaging	Het
Stkld1	T	C	2: 26,842,759 (GRCm39)	V577A	probably damaging	Het
Sulf2	T	A	2: 165,922,773 (GRCm39)	E652D	probably benign	Het
Sycp2	T	A	2: 178,019,848 (GRCm39)	Q556L	probably benign	Het
Syk	A	G	13: 52,765,274 (GRCm39)	T134A	probably benign	Het
Tas2r122	T	A	6: 132,688,585 (GRCm39)	I103F	possibly damaging	Het
Tex10	A	G	4: 48,451,940 (GRCm39)	W729R	probably damaging	Het
Tex261	G	T	6: 83,750,713 (GRCm39)	P95T	probably damaging	Het
Tm2d2	T	C	8: 25,507,523 (GRCm39)	S47P	probably benign	Het
Tmem95	A	G	11: 69,767,817 (GRCm39)	S128P	probably damaging	Het
Tnxb	G	A	17: 34,911,553 (GRCm39)	A1619T	possibly damaging	Het
Trappc9	A	G	15: 72,929,885 (GRCm39)	I157T	probably damaging	Het
Unc13c	T	A	9: 73,390,897 (GRCm39)		probably null	Het
Upb1	A	T	10: 75,265,803 (GRCm39)	Y210F	probably damaging	Het
Urb1	T	C	16: 90,559,232 (GRCm39)	M1684V	probably benign	Het
Wnk2	G	A	13: 49,232,158 (GRCm39)	P727S	possibly damaging	Het
Zfp1004	T	A	2: 150,034,867 (GRCm39)	M396K	probably benign	Het
Zfp551	A	T	7: 12,150,276 (GRCm39)	S378T	probably damaging	Het
Zfp598	T	C	17: 24,888,898 (GRCm39)	V56A	possibly damaging	Het
Zfp945	C	T	17: 23,076,223 (GRCm39)		probably null	Het

Other mutations in Ago1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Ago1	APN	4	126,353,610 (GRCm39)	missense	probably damaging	0.98
IGL02578:Ago1	APN	4	126,333,324 (GRCm39)	missense	probably benign	0.12
IGL02709:Ago1	APN	4	126,347,433 (GRCm39)	nonsense	probably null
IGL02810:Ago1	APN	4	126,336,886 (GRCm39)	missense	probably benign	0.00
IGL03037:Ago1	APN	4	126,355,587 (GRCm39)	missense	probably benign	0.00
IGL03091:Ago1	APN	4	126,352,982 (GRCm39)	missense	probably damaging	0.98
IGL03100:Ago1	APN	4	126,336,964 (GRCm39)	missense	probably benign	0.08
IGL03121:Ago1	APN	4	126,353,796 (GRCm39)	missense	probably benign	0.00
R0195:Ago1	UTSW	4	126,357,484 (GRCm39)	missense	probably benign	0.01
R0244:Ago1	UTSW	4	126,357,499 (GRCm39)	missense	possibly damaging	0.94
R0309:Ago1	UTSW	4	126,336,959 (GRCm39)	missense	probably benign	0.06
R0514:Ago1	UTSW	4	126,333,388 (GRCm39)	missense	probably benign
R0557:Ago1	UTSW	4	126,353,817 (GRCm39)	missense	probably benign	0.00
R1104:Ago1	UTSW	4	126,347,426 (GRCm39)	missense	probably damaging	0.99
R1553:Ago1	UTSW	4	126,334,194 (GRCm39)	missense	probably damaging	0.99
R1624:Ago1	UTSW	4	126,357,534 (GRCm39)	missense	probably damaging	0.97
R1851:Ago1	UTSW	4	126,333,788 (GRCm39)	missense	probably benign	0.00
R1867:Ago1	UTSW	4	126,335,029 (GRCm39)	missense	probably damaging	0.98
R2051:Ago1	UTSW	4	126,354,246 (GRCm39)	missense	probably benign	0.01
R2057:Ago1	UTSW	4	126,337,021 (GRCm39)	missense	probably damaging	0.98
R2105:Ago1	UTSW	4	126,355,581 (GRCm39)	missense	probably benign	0.30
R2117:Ago1	UTSW	4	126,357,650 (GRCm39)	splice site	probably null
R2256:Ago1	UTSW	4	126,335,704 (GRCm39)	missense	possibly damaging	0.80
R2272:Ago1	UTSW	4	126,347,443 (GRCm39)	missense	probably benign	0.01
R2517:Ago1	UTSW	4	126,333,732 (GRCm39)	nonsense	probably null
R2850:Ago1	UTSW	4	126,336,868 (GRCm39)	splice site	probably benign
R2993:Ago1	UTSW	4	126,333,839 (GRCm39)	splice site	probably benign
R3746:Ago1	UTSW	4	126,354,837 (GRCm39)	missense	probably benign
R3747:Ago1	UTSW	4	126,354,837 (GRCm39)	missense	probably benign
R3750:Ago1	UTSW	4	126,354,837 (GRCm39)	missense	probably benign
R4600:Ago1	UTSW	4	126,354,185 (GRCm39)	missense	probably benign	0.37
R4934:Ago1	UTSW	4	126,342,652 (GRCm39)	missense	possibly damaging	0.56
R4983:Ago1	UTSW	4	126,347,447 (GRCm39)	missense	probably damaging	0.99
R5086:Ago1	UTSW	4	126,347,397 (GRCm39)	missense	probably benign	0.01
R5132:Ago1	UTSW	4	126,355,516 (GRCm39)	missense	probably benign	0.01
R5239:Ago1	UTSW	4	126,335,008 (GRCm39)	missense	probably damaging	1.00
R5609:Ago1	UTSW	4	126,354,830 (GRCm39)	missense	possibly damaging	0.80
R5705:Ago1	UTSW	4	126,342,587 (GRCm39)	missense	probably benign	0.01
R5980:Ago1	UTSW	4	126,354,362 (GRCm39)	unclassified	probably benign
R6036:Ago1	UTSW	4	126,337,021 (GRCm39)	missense	probably damaging	0.98
R6036:Ago1	UTSW	4	126,337,021 (GRCm39)	missense	probably damaging	0.98
R6398:Ago1	UTSW	4	126,342,601 (GRCm39)	missense	probably benign	0.26
R6505:Ago1	UTSW	4	126,357,628 (GRCm39)	missense	probably benign	0.00
R6545:Ago1	UTSW	4	126,348,145 (GRCm39)	missense	possibly damaging	0.74
R6944:Ago1	UTSW	4	126,354,215 (GRCm39)	missense	possibly damaging	0.78
R7041:Ago1	UTSW	4	126,357,499 (GRCm39)	missense	possibly damaging	0.94
R7490:Ago1	UTSW	4	126,333,298 (GRCm39)	makesense	probably null
R7496:Ago1	UTSW	4	126,355,545 (GRCm39)	missense	probably benign	0.20
R7575:Ago1	UTSW	4	126,347,701 (GRCm39)	missense	probably benign	0.12
R7625:Ago1	UTSW	4	126,337,022 (GRCm39)	missense	probably benign	0.18
R7988:Ago1	UTSW	4	126,354,210 (GRCm39)	missense	probably damaging	1.00
R8041:Ago1	UTSW	4	126,335,729 (GRCm39)	missense	probably damaging	1.00
R8073:Ago1	UTSW	4	126,337,019 (GRCm39)	missense	probably benign	0.04
R8086:Ago1	UTSW	4	126,354,774 (GRCm39)	missense	probably benign
R8127:Ago1	UTSW	4	126,348,214 (GRCm39)	missense	possibly damaging	0.95
R8772:Ago1	UTSW	4	126,354,316 (GRCm39)	unclassified	probably benign
R8878:Ago1	UTSW	4	126,357,516 (GRCm39)	missense	probably benign	0.35
R8989:Ago1	UTSW	4	126,357,583 (GRCm39)	missense	probably benign	0.01
R9140:Ago1	UTSW	4	126,336,977 (GRCm39)	missense	probably benign
X0025:Ago1	UTSW	4	126,336,908 (GRCm39)	missense	possibly damaging	0.47
Z1177:Ago1	UTSW	4	126,347,449 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGACAATAAAACTAGACTTGGG -3'
(R):5'- CTGATCATAGATCCACCCTGG -3'

Sequencing Primer
(F):5'- GTCTTACTAGACTGACCATTAAAGC -3'
(R):5'- CACCCTGGATTCCAAACTTTTG -3'

Posted On

2014-08-25